A single-dose gene replacement therapy is found to improve movement ability in children over 2 years of age and teenagers with spinal muscular atrophy, according to research published in Nature Medicine. The results of this phase 3 clinical trial, involving 126 children and adolescents, could support an alternative to lifelong, repeat-dose treatments for people living with spinal atrophy beyond the age of 2 years.

Spinal muscular atrophy is a rare genetic condition that causes muscle weakness and loss of movement over time. It develops because the body cannot make enough of a protein, called survival motor neuron, needed for healthy nerve cells.

Onasemnogene abeparvovec is a gene therapy that restores production of this missing protein in a single treatment. However, it is currently approved in the U.S. and Europe only as a single intravenous treatment for children under 2 years of age. Therefore, those older than 2 years of age can receive treatments only to slow the disease, and these must be taken regularly, either by injection or orally.

Researchers have built a tiny, lightweight microscope that captures neuron activity with unprecedented speed that can be used in freely moving animals. The new tool could give scientists a more complete view of how brain cells process information during natural behavior.

The microscope is designed to image genetically encoded voltage indicators —fluorescent dyes that rapidly change brightness when a neuron fires—through a small window in the skull while the animal is awake.

“Unlike most miniature microscopes that track slower calcium signals, ours captures electrical spikes at hundreds of frames per second,” said Emily Gibson from the University of Colorado Anschutz Medical Campus. “This makes it possible to capture the moment a neuron fires as well as the quieter signals that build up inside neurons before firing.”